Skip to main content
Log in

Suboptimal Adherence in Clinical Practice to Guidelines Recommendation to Screen for Lynch Syndrome

  • Original Article
  • Published:
Digestive Diseases and Sciences Aims and scope Submit manuscript

Abstract

Background

Identification of Lynch syndrome (LS) followed by annual/biannual surveillance colonoscopy markedly reduces the risk of developing new colorectal cancer (CRC) among those with LS.

Aims

(1) To determine the current practice of identifying LS in the USA and Canada, and current surveillance and management practices for those diagnosed with LS; (2) to determine whether variances in current practice are physician/region dependent or influenced by ease of access to specialist clinics.

Methods

An online survey request was sent to practicing gastroenterologists through the Canadian Association of Gastroenterology and the American College of Gastroenterology. Fisher’s exact tests were performed to determine the factors associated with screening for LS and separately for follow-up, surveillance, and management.

Results

A total of 249 participants were recruited, of which 237 were gastroenterologists and included in the analysis. Less than one-third of practicing gastroenterologists indicated that their CRC patients were undergoing screening tests to identify LS. While 42% (65/153) of participants from the USA stated that their patients were undergoing universal LS screening (i.e., among all diagnosed with CRC), only 12% (6/49) of participants from Canada reported this practice (p < 0.001). There was no difference in reported practice between the physicians that do and do not have access to hereditary clinics (35% vs. 34% testing; p = 0.54). Appropriate surveillance interval to look for CRC in patients with LS was recommended by most.

Conclusion

This survey suggests there is a significant difference in practice between Canada and the USA in regard to identification of LS, with suboptimal practice throughout North America.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  1. Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA. 2012;308:1555.

    Article  CAS  Google Scholar 

  2. Jasperson KW, Tuohy TM, Neklason DW, et al. Hereditary and familial colon cancer. Gastroenterology. 2010;138:2044–2058.

    Article  CAS  Google Scholar 

  3. Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat. 2013;34:490.

    Article  CAS  Google Scholar 

  4. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26:5783–5788.

    Article  Google Scholar 

  5. Shaikh T, Handorf EA, Meyer JE, et al. Mismatch repair deficiency testing in patients with colorectal cancer and nonadherence to testing guidelines in young adults. JAMA Oncol. 2017;4:e173580.

    Article  Google Scholar 

  6. Vindigni SM, Kaz AM. Universal screening of colorectal cancers for lynch syndrome: challenges and opportunities. Dig Dis Sci. 2015;61:969–976.

    Article  Google Scholar 

  7. Rubenstein JH, Enns R, Heidelbaugh J, et al. American Gastroenterological Association Institute guideline on the diagnosis and management of Lynch syndrome. Gastroenterology. 2015;149:777–782.

    Article  Google Scholar 

  8. Ladabaum U, Ford JM, Martel M, et al. AGA technical review on the diagnosis and management of Lynch syndrome. Gastroenterology. 2015;149:783–813.

    Article  Google Scholar 

  9. Vasen HF, Blanco I, Aktan-Collan K, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62:812–823.

    Article  CAS  Google Scholar 

  10. ACOG Practice Bulletin No. 147. Committee on Practice B-G, Society of Gynecologic O. Obstet Gynecol. 2014;124:1042–1054.

    Article  Google Scholar 

  11. Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110:223–262.

    Article  Google Scholar 

  12. Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Am J Gasteroenterol.. 2014;109:1159–1179.

    Article  Google Scholar 

  13. Moller P, Seppala T, Bernstein I, et al. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2017;66:464–472.

    Article  Google Scholar 

  14. Engel C, Vasen HF, Seppala T, et al. No difference in colorectal cancer incidence or stage at detection by colonoscopy among 3 countries with different Lynch syndrome surveillance policies. Gastroenterol. 2018;155:1400–1409.

    Article  Google Scholar 

  15. Provenzale D, Gupta S, Ahnen DJ. Genetic/familial high-risk assessment: colorectal. National Comprehensive Cancer Network. 2018. https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf.

  16. Pi S, Nap-Hill E, Telford J, et al. Recognition of Lynch syndrome amongst newly diagnosed colorectal cancers at St. Paul’s hospital. Can J Gastroenterol Hepatol. 2017. https://doi.org/10.1155/2017/9625638.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Noll A, Parekh PJ, Zhou M, et al. Barriers to Lynch syndrome testing and preoperative result availability in early-onset colorectal cancer: a National Physician Survey Study. Clin Transl Gastroenterol. 2018;9:185.

    Article  Google Scholar 

  18. Pan JY, Haile RW, Templeton A, et al. Worldwide practice patterns in Lynch syndrome diagnosis and management, based on data from the International MisMatch Repair Consortium. Clin Gastroenterol Hepatol. 2018;16:1901–1910.

    Article  Google Scholar 

  19. Provenzale D, Hall MJ, Lynch PM et al. National comprehensive cancer network clinical guidelines in oncology. Genetic/Familial High-Risk Assessment: Colorectal. Version 1. 2018.

  20. Hall MJ, Forman AD, Pilarski R, et al. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014;12:1339–1346.

    Article  Google Scholar 

  21. Koonstra JJ, Mourits MJ, Sijmons RH, et al. Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncol. 2009;10:400–408.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to H. Singh.

Ethics declarations

Conflict of interest

Dr. Singh has served on the advisory boards of PendoPharm, Ferring, Takeda, and Merck, received an unrestricted educational grant from Ferring and research funding from Merck Canada. Dr. Samadder is a consultant for Cancer Prevention Pharmaceuticals, Jansen Research and Development, and Mallinckrodt Pharmaceuticals. Dr. Kim has received research funding from Celgene. All other authors declare no conflict of interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Appendix

Appendix

figure a
figure b
figure c
figure d
figure e
figure f

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Jain, A., Shafer, L., Rothenmund, H. et al. Suboptimal Adherence in Clinical Practice to Guidelines Recommendation to Screen for Lynch Syndrome. Dig Dis Sci 64, 3489–3501 (2019). https://doi.org/10.1007/s10620-019-05692-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10620-019-05692-6

Keywords

Navigation